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Items: 1 to 20 of 28

1.

Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.

van der Maarel SM, Tawil R, Tapscott SJ.

Trends Mol Med. 2011 May;17(5):252-8. doi: 10.1016/j.molmed.2011.01.001. Epub 2011 Feb 1. Review.

2.

Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions.

Statland JM, Tawil R.

Curr Opin Neurol. 2011 Oct;24(5):423-8. doi: 10.1097/WCO.0b013e32834959af. Review.

PMID:
21734574
3.

Genetic and epigenetic contributors to FSHD.

Daxinger L, Tapscott SJ, van der Maarel SM.

Curr Opin Genet Dev. 2015 Aug;33:56-61. doi: 10.1016/j.gde.2015.08.007. Epub 2015 Sep 7. Review.

4.

Facioscapulohumeral muscular dystrophy (FSHD): an enigma unravelled?

Richards M, Coppée F, Thomas N, Belayew A, Upadhyaya M.

Hum Genet. 2012 Mar;131(3):325-40. doi: 10.1007/s00439-011-1100-z. Epub 2011 Oct 9. Review.

PMID:
21984394
5.

Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.

van der Maarel SM, Miller DG, Tawil R, Filippova GN, Tapscott SJ.

Curr Opin Neurol. 2012 Oct;25(5):614-20. doi: 10.1097/WCO.0b013e328357f22d. Review.

6.

Facioscapulohumeral muscular dystrophy.

Sacconi S, Salviati L, Desnuelle C.

Biochim Biophys Acta. 2015 Apr;1852(4):607-14. doi: 10.1016/j.bbadis.2014.05.021. Epub 2014 May 29. Review.

7.

Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.

Hewitt JE.

Hum Mol Genet. 2015 Oct 15;24(R1):R17-23. doi: 10.1093/hmg/ddv237. Epub 2015 Jun 25. Review.

PMID:
26113644
8.

In junk we trust: repetitive DNA, epigenetics and facioscapulohumeral muscular dystrophy.

Neguembor MV, Gabellini D.

Epigenomics. 2010 Apr;2(2):271-87. doi: 10.2217/epi.10.8. Review.

PMID:
22121874
9.

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology.

Tawil R, van der Maarel SM, Tapscott SJ.

Skelet Muscle. 2014 Jun 10;4:12. doi: 10.1186/2044-5040-4-12. eCollection 2014. Review.

10.

Facioscapulohumeral Muscular Dystrophy.

Lemmers RJLF, Miller DG, van der Maarel SM.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1999 Mar 8 [updated 2014 Mar 20].

11.

Deciphering transcription dysregulation in FSH muscular dystrophy.

Ehrlich M, Lacey M.

J Hum Genet. 2012 Aug;57(8):477-84. doi: 10.1038/jhg.2012.74. Epub 2012 Jun 21. Review.

12.

Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.

de Greef JC, Frants RR, van der Maarel SM.

Mutat Res. 2008 Dec 1;647(1-2):94-102. doi: 10.1016/j.mrfmmm.2008.07.011. Epub 2008 Aug 3. Review.

13.

Facioscapulohumeral muscular dystrophy.

van der Maarel SM, Frants RR, Padberg GW.

Biochim Biophys Acta. 2007 Feb;1772(2):186-94. Epub 2006 Jun 6. Review.

14.

A complex interplay of genetic and epigenetic events leads to abnormal expression of the DUX4 gene in facioscapulohumeral muscular dystrophy.

Gatica LV, Rosa AL.

Neuromuscul Disord. 2016 Dec;26(12):844-852. doi: 10.1016/j.nmd.2016.09.015. Epub 2016 Sep 19. Review.

PMID:
27816329
15.

Molecular basis of facioscapulohumeral muscular dystrophy.

Tupler R, Gabellini D.

Cell Mol Life Sci. 2004 Mar;61(5):557-566. doi: 10.1007/s00018-003-3285-3. Review.

PMID:
15004695
16.

Genomic analysis of facioscapulohumeral muscular dystrophy.

Clapp J, Bolland DJ, Hewitt JE.

Brief Funct Genomic Proteomic. 2003 Oct;2(3):213-23. Review.

PMID:
15239924
17.

Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy.

Dmitriev P, Lipinski M, Vassetzky YS.

Neuromuscul Disord. 2009 Jan;19(1):17-20. doi: 10.1016/j.nmd.2008.09.004. Epub 2008 Oct 29. Review.

PMID:
18974002
18.

Facioscapulohumeral muscular dystrophy.

Statland J, Tawil R.

Neurol Clin. 2014 Aug;32(3):721-8, ix. doi: 10.1016/j.ncl.2014.04.003. Epub 2014 May 15. Review.

19.

The cell biology of disease: FSHD: copy number variations on the theme of muscular dystrophy.

Cabianca DS, Gabellini D.

J Cell Biol. 2010 Dec 13;191(6):1049-60. doi: 10.1083/jcb.201007028. Review.

20.

Emerging preclinical animal models for FSHD.

Lek A, Rahimov F, Jones PL, Kunkel LM.

Trends Mol Med. 2015 May;21(5):295-306. doi: 10.1016/j.molmed.2015.02.011. Epub 2015 Mar 20. Review.

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